I38M (p.Ile38Met) variant of SLC2A2 (P11168)
I38M (p.Ile38Met) in SLC2A2 (P11168) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi-Bickel syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes structural context.
I38M (p.Ile38Met) variant details
- p.Ile38Met
- rs2108257085
- ClinGen CA355494019
- ClinVar RCV001886937
- Ensembl rs2108257085
- Uncertain significance
- Fanconi-Bickel syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- AlphaMissense 0.21
- MetaLR 0.44
- MetaSVM -0.35
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.40
- ClinVar: Uncertain significance (Fanconi-Bickel syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available